Abstract P6-05-47: Preimplantation genetic testing for BRCA gene mutation carriers - the future of health care in Poland?
Authors: Joanna Kufel-Grabowska, Amira Podolak, Mikołaj Bartoszkiewicz, Daniel Maliszewski, Dominika Ossowska, Robert Spaczynski
Journal: Cancer Research (2023)

Abstract Introduction Genetic background is rarely the cause of breast cancer incidence. Mutations in genes that increase the risk of breast cancer (most commonly BRCA1/2) are diagnosed in about 5-10% of patients. The lifetime risk of breast cancer in BRCA1/2 gene mutation carriers is 80%, and for ovarian cancer from 40-60%, while the chance of passing the mutation to offspring is 50%. The use of pre-implantation genetic testing (PGT-M) of the embryo during in vitro treatment prevents the transfer of mutated gene associated with an increased risk of cancer to the child. The significantly limited availability and high cost of PGT-M in Poland prevent its widespread use. The aim of the survey was to assess interest in PGT-M by female carriers of mutations in genes that increase cancer risk in Poland. Material and Methods The survey covered 103 persons, 102 with diagnosed mutations in genes that increase cancer risk. The questionnaire consisted of 22 questions regarding: age and gender of the patients, carriage of mutations in genes that increase the risk of cancer (age of mutation diagnosis, type of mutation, preventive measures taken, carriage of mutations in the family, incidence of cancer among relatives, and care of relatives during illness), and knowledge of pre-implantation diagnosis and attitudes regarding the use of PGT-M to avoid passing the defective gene to offspring. Results The study included 101 women (98.1%) and 2 men (1.9%), with a median age of 38 years (22-74). Fifty-two (50.5%) were diagnosed with cancer: 50 with breast cancer and 2 with ovarian cancer. Eighty-one subjects (78.6%) were diagnosed with a mutation in the BRCA1 gene, seventeen (16.5%) in the BRCA2 gene, three (2.9%) in the CHEK2 gene, two (1.9%) in the TP53 gene and one (1%) in the PALB gene. The median age of mutation diagnosis was 34 years (18-66). A significant proportion of patients took prophylactic measures, sixty-one (59.2%) underwent risk-reducing mastectomy (RRM), and forty-six (44.7%) risk-reducing salphingo-oophorectomy (RRSO). Ninety-five subjects (92.2%) declared regular visits to a genetic counseling center. Thirty-two persons (31.1%) had a family history of cancer (1-5 members in the family), mainly in 1st degree relatives – parents and siblings (about 60% of cases), the predominant cancers were breast cancer (106 cases), ovarian cancer (38 cases) and prostate cancer (7 cases); eighty-two family members died of cancer, seventy-five (72.8%) respondents accompanied family members in the dying process. Twenty-six individuals (25.2%) knew what PGT-M was, information was obtained from an oncologist (11), gynecologist (7), geneticist (6), other patients (6) and most often from the Internet (17). Seventy-four respondents (71.8%) had children. Thirty-three (32%) declared that information about carrying a mutation in a gene that increases cancer risk influenced their decision to have offspring. Sixty-eight (64.1%) of the respondents, with prior knowledge of PGT-M and with the availability of the method, would have used the diagnosis in combination with in vitro fertilization to avoid passing the defective gene to offspring. Fifty subjects (48.5%) were willing to cover the costs of this procedure. Conclusions PGT-M in combination with in vitro fertilization is a safe and effective method of preventing the transfer of a defective gene to offspring. Due to the lack of availability and high cost of the procedure, it is not available in daily clinical practice among carriers of mutations in genes that increase the risk of cancer in Poland. Their own incidence of cancer, multiple incidences in family members and involvement in the dying process may influence patients’ decisions to have offspring and motivate them to seek out centers offering PGT-M. The results of this survey indicate the need to offer pre-implantation testing to patients despite the lack of reimbursement and to increase its availability in Poland. Citation Format: Joanna Kufel-Grabowska, Amira Podolak, Mikołaj Bartoszkiewicz, Daniel Maliszewski, Dominika Ossowska, Robert Spaczynski. Preimplantation genetic testing for BRCA gene mutation carriers - the future of health care in Poland? [abstract]. In: Proceedings of the 2022 San Antonio Breast Cancer Symposium; 2022 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2023;83(5 Suppl):Abstract nr P6-05-47.